RBFOX1 (RNA binding fox-1 homolog 1)

Gene

• Entrez ID: 54715
• Gene name: RNA binding fox-1 homolog 1
• Gene symbol: RBFOX1
• Synonyms (NCBI Gene): 2BP1, A2BP1, FOX-1, FOX1, HRNBP1
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of atax

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145873257	G>A,T	Likely-benign, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs147023054	C>T	Likely-benign, pathogenic	Intron variant
rs372761949	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs974157467	GCTGCC>-,GCTGCCGCTGCC	Pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1064794750	C>G,T	Likely-pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028610	hsa-miR-30a-5p	Proteomics	18668040
MIRT032440	hsa-let-7b-5p	Proteomics	18668040
MIRT666725	hsa-miR-562	HITS-CLIP	23824327
MIRT666724	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT666723	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT666722	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT666721	hsa-miR-498	HITS-CLIP	23824327
MIRT666720	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT666719	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT666718	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT666717	hsa-miR-1305	HITS-CLIP	23824327
MIRT654401	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT654400	hsa-miR-935	HITS-CLIP	23824327
MIRT654399	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT654397	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666725	hsa-miR-562	HITS-CLIP	23824327
MIRT666724	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT666723	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT666722	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT666721	hsa-miR-498	HITS-CLIP	23824327
MIRT666720	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT666719	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT666718	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT666717	hsa-miR-1305	HITS-CLIP	23824327
MIRT654401	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT654400	hsa-miR-935	HITS-CLIP	23824327
MIRT654399	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT654397	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT1294186	hsa-miR-129-5p	CLIP-seq
MIRT1294187	hsa-miR-1470	CLIP-seq
MIRT1294188	hsa-miR-3691-5p	CLIP-seq
MIRT1294189	hsa-miR-4446-5p	CLIP-seq
MIRT1294190	hsa-miR-450b-5p	CLIP-seq
MIRT1294191	hsa-miR-4667-3p	CLIP-seq
MIRT1294192	hsa-miR-4755-5p	CLIP-seq
MIRT1294193	hsa-miR-4764-5p	CLIP-seq
MIRT1294194	hsa-miR-507	CLIP-seq
MIRT1294195	hsa-miR-557	CLIP-seq
MIRT1294196	hsa-miR-642a	CLIP-seq
MIRT1294197	hsa-miR-1237	CLIP-seq
MIRT1294198	hsa-miR-1248	CLIP-seq
MIRT1294186	hsa-miR-129-5p	CLIP-seq
MIRT1294199	hsa-miR-2116	CLIP-seq
MIRT1294200	hsa-miR-3122	CLIP-seq
MIRT1294201	hsa-miR-3165	CLIP-seq
MIRT1294202	hsa-miR-324-5p	CLIP-seq
MIRT1294203	hsa-miR-3660	CLIP-seq
MIRT1294188	hsa-miR-3691-5p	CLIP-seq
MIRT1294204	hsa-miR-375	CLIP-seq
MIRT1294205	hsa-miR-3913-5p	CLIP-seq
MIRT1294206	hsa-miR-4256	CLIP-seq
MIRT1294207	hsa-miR-4273	CLIP-seq
MIRT1294208	hsa-miR-450b-3p	CLIP-seq
MIRT1294190	hsa-miR-450b-5p	CLIP-seq
MIRT1294209	hsa-miR-4526	CLIP-seq
MIRT1294210	hsa-miR-4677-5p	CLIP-seq
MIRT1294193	hsa-miR-4764-5p	CLIP-seq
MIRT1294194	hsa-miR-507	CLIP-seq
MIRT1294195	hsa-miR-557	CLIP-seq
MIRT1294211	hsa-miR-769-3p	CLIP-seq
MIRT1294186	hsa-miR-129-5p	CLIP-seq
MIRT2312200	hsa-miR-3978	CLIP-seq
MIRT2312201	hsa-miR-556-3p	CLIP-seq
MIRT2689420	hsa-miR-28-3p	CLIP-seq
MIRT2689421	hsa-miR-4640-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	10814712
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	10814712, 16713569, 24722188, 25416956, 26871637, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10814712
GO:0005737	Component	Cytoplasm	IEA
GO:0005802	Component	Trans-Golgi network	IDA	10814712
GO:0006397	Process	MRNA processing	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	29358748
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:0050658	Process	RNA transport	NAS	10814712
GO:0097165	Component	Nuclear stress granule	IDA	29358748

Other IDs

• MIM: 605104
• HGNC: 18222
• e!Ensembl: ENSG00000078328

Protein

• UniProt ID: Q9NWB1
• Protein name: RNA binding protein fox-1 homolog 1 (Ataxin-2-binding protein 1) (Fox-1 homolog A) (Hexaribonucleotide-binding protein 1)
• Protein function: RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. {ECO:0000269|PubMed:16537540}
• PDB: 2ERR, 2N82, 4ZKA, 7VRL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	119 → 187	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF12414	Fox-1_C	253 → 342	Calcitonin gene-related peptide regulator C terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in muscle and brain.
• Sequence:

  MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPE
  HTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLH
  VSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTV
  VEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSM
  YSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVY
  QDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAF
  APLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY

• Sequence length: 397

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Colorectal cancer	Pathogenic	rs2093621567	RCV001293843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2510618048	RCV003329103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SUSCEPTIBILITY 1	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic generalized epilepsy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 46	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RBFOX1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR BRAIN INJURY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WHEAT ALLERGIC REACTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	25085501		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35627222	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30423114	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859, 22678932	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	30818988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	21614001, 22730494, 22952857, 32081867	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22952857, 24290388, 24664471, 24938762, 26687839, 27260404, 27481563, 29174947, 29621484, 30001398, 30165121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	17503474, 21614001, 21994138, 24613350, 24938762, 25575511, 26174448, 26687839, 30634066, 31294817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17503474, 18621663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19546859, 21614001, 22678932, 23575222, 26174448, 27260404, 31294817, 34535545, 37903506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	26174448		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	GWASDB_DG	20460270		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19567891, 39999946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25823661	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23301059	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25575132		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23236287	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26116573, 28949795		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	21309755	Associate	★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22678932	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23286373		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23286373, 26222184	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26116573, 26619120, 28949795		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37420130	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	23602712	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	GWASDB_DG	21441570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	GWASCAT_DG	21441570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	29997126		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31540845		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	26174448	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	26174448		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23350840, 24039908, 24290388, 25243798, 29621484, 30001398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	23350840, 25950944, 26174448, 28756411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	23350840, 24039908, 25243798, 26174448	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	24039908, 26174448	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	25243798, 26174448	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	26174448		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	24039908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26174448		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	36183486	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	25027321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	23918370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	18474104	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	24664471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	26116573, 26619120, 28949795		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	27637763	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28077579		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	GWASCAT_DG	25233373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic generalized epilepsy	Epilepsy	BEFREE	23350840, 24039908, 25243798		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Impaired cognition	Impaired Cognition	GWASCAT_DG	26252872		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30001398, 31429825		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	23602712	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	20153395	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31512508	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	25571999		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909, 29700475, 29728651, 29942085, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	19414679		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30001398		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23830731	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	37903506	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	19396477	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	23300487		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	25587058		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	27611182, 36395078	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	25211016		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	25211016		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25243798, 27481563, 29174947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	20724578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	30547318, 37500688	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Morbid	Obesity	Pubtator	31852448	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19508968	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	22678932	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27264186	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	30547318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24290388, 24664471, 27481563, 29174947, 30001398		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	20153395		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19567891	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	38167455	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19546859, 22952857, 30597088, 31294817, 36833409, 39999946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26092620, 30001398, 30597088, 31294817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 27846195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	23350840	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	BEFREE	28085524		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20331625	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	19546859	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visual seizure	Seizure	CTD_human_DG	21623373		★☆☆☆☆ Found in Text Mining only